Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of tes...

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Bibliographic Details
Main Authors: Patricia L. Hall, Rossana Sanchez, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
post-analytical tools
pompe disease
mucopolysaccharidosis type i
pseudodeficiency
Online Access:https://www.mdpi.com/2409-515X/6/1/2

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https://www.mdpi.com/2409-515X/6/1/2

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